Table 1.
Comparison of demographic characteristics of patients with various sequence variant categories and patients with a positive family history of ADPKD.
| De novo Sequence variant | Unknown sequence variant | Possible pathologic DNA variant | ADPKD diagnosis in parental generation | Positive family history of ADPKD | |
|---|---|---|---|---|---|
| No. | 6 | 10 | 4 | 4 | 688 |
| Women | 67% | 50% | 75% | 50% | 61% |
| Age (years) at clinical evaluation | 39 ± 1 | 43 ± 8 | 37 ± 5 | 26 ± 11 | 34 ± 16 |
| Paternal age range (years) at clinical evaluation | 65–74 | 50–87 | 58–80 | 31–81 | |
| Age at diagnosis (y) | 24 ± 5 | 37 ± 4* | 36 ± 7 | 21 ± 7 | 25 ± 1 |
| Hypertension | 67% | 90% | 75% | 50% | 69% |
| Age at hypertension diagnosis (years) | 25 ± 6 | 32 ± 4 | 39 ± 7 | 3a | 31 ± 1 |
| Serum creatinine (mg/dl) b (median) | 1.7 ± 0.4 (1.3) | 2.3 ± 0.3 (1.7) | 1.3 ± 0.5 (1.3) | 1.0 ± 0.5(0.7) | 1.5 ± 0.1 (1.0) |
| Creatinine clearance (ml/min/1.73m2) c (median) | 80 ± 12 (69) | 72 ± 9 (61) | 99 ± 17 (97) | 103 ± 17 (106) | 83 ± 1 (86) |
| Renal volume (cm3) b (median) | 702 ± 219 (695) | 698 ± 169 (918) | 249 ± 310 (321) | 413 ± 268 (237) | 684 ± 21 (449) |
| Liver cysts | 100% | 60% | 75% | 25% | 50% |
| Mend | 100% | 60% | 0% | 0% | 44% |
| Womend | 100% | 60% | 100% | 50% | 55% |
| Severe liver cystic diseasee (> 15 liver cysts) | 83%* | 40% | 50%** | 25% | 25% |
| Menf | 50% | 40% | 0% | 0% | 18% |
| Womenf | 100% | 40% | 67% | 50% | 30% |
| Ruptured intracranial aneurysm | 0% | 10% | 0% | 0% | 2.4% |
Note: To convert serum creatinine in mg/dl to μmol/L, multiply by 88.4; to convert creatinine clearance in ml/min/1.73 m2 to ml/s/1.73 m2, multiply by 0.01667.
*
P < 0.05
**
P <0.001
a
Age at hypertension diagnosis only available for 1 patient.
b
Age and sex adjusted
c
Age adjusted.
d
% Total number of patients with liver cysts
e
>15 cysts of varying size with evidence of 1–25% reduction in normal liver parenchyma
f
% Total number of men or women patients with liver cysts who have severe liver cystic disease